Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9)

Am J Med Genet A. 2006 Aug 15;140(16):1791-4. doi: 10.1002/ajmg.a.31354.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Audiometry
  • Conserved Sequence
  • Extracellular Matrix Proteins
  • Female
  • Genes, Dominant*
  • Hearing Loss / genetics*
  • Humans
  • Male
  • Models, Molecular
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Protein Conformation
  • Protein Sorting Signals
  • Protein Structure, Secondary
  • Protein Structure, Tertiary
  • Proteins / chemistry
  • Proteins / genetics*
  • Sequence Homology, Amino Acid

Substances

  • COCH protein, human
  • Extracellular Matrix Proteins
  • Protein Sorting Signals
  • Proteins